A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.

ABSTRACT:

Background

Germline mutations in either of the two tumor-suppressor genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breast and ovarian cancer cases. Most of these mutations consist of deletions, insertions, nonsense mutations, and splice variants, however an increasing number of large genomic rearrangements have been identified in these genes.

Methods

We analysed BRCA1 and BRCA2 genes by direct sequencing and MLPA. We confirmed the results by an alternative MLPA kit and characterized the BRCA1 deletion by Array CGH.

Results

We describe the first case of a patient with no strong family history of the disease who developed early-onset bilateral breast cancer with a de novo complete BRCA1 gene deletion in the germinal line. The detected deletio

SUBMITTER: Garcia-Casado Z 

PROVIDER: S-EPMC3207938 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature